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{
"count": 220489,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1535",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1533",
"results": [
{
"created": "2020-10-18T07:52:46.035770+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srebf1 has been classified as Green List (High Evidence).",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:52:35.892353+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SREBF1 was added\ngene: SREBF1 was added to Hair disorders. Sources: Expert Review\nMode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SREBF1 were set to 32497488; 31790666; 32902915\nPhenotypes for gene: SREBF1 were set to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016; Mucoepithelial dysplasia, hereditary, MIM#158310\nReview for gene: SREBF1 was set to GREEN\nAdded comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.\r\n\r\nIFAP phenotype: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples. \nSources: Expert Review",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:50:48.611676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016 to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016; Mucoepithelial dysplasia, hereditary, MIM#158310",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:50:24.855607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SREBF1 were set to 32497488",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:49:49.929175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SREBF1: Added comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.; Changed publications: 32497488, 31790666, 32902915; Changed phenotypes: IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016, Mucoepithelial dysplasia, hereditary, MIM#158310",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:48:33.534873+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016 to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016; Mucoepithelial dysplasia, hereditary, MIM#158310",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:48:01.749889+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SREBF1 were set to 32497488",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:47:17.278783+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples. \nSources: Literature; to: IFAP phenotype: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples. \r\nSources: Literature",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-18T07:47:01.529651+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SREBF1: Added comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.; Changed publications: 32497488, 31790666, 32902915; Changed phenotypes: IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016, Mucoepithelial dysplasia, hereditary, MIM#158310",
"entity_name": "SREBF1",
"entity_type": "gene"
},
{
"created": "2020-10-17T23:02:40.459531+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.489",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: LMNB2 was added\ngene: LMNB2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LMNB2 were set to 33033404\nPhenotypes for gene: LMNB2 were set to Congenital microcephaly; Global developmental delay; Intellectual disability\nPenetrance for gene: LMNB2 were set to Complete\nMode of pathogenicity for gene: LMNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: LMNB2 was set to GREEN\nAdded comment: Parry et al (2020 - PMID: 33033404) in a study to identify novel microcephaly genes using the DDD and 100k genomes project (100kGP) patient cohort, report on the phenotype of 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6).\r\n\r\nLMNB1 : The authors identified 3 recurrent variants (c.97A>G - p.Lys33Glu (3), c.97_99del - p.Lys33del (2) , c.269G>C - p.Arg90Pro (2) / NM_005573.4) in seven individuals (3 from the DDD study, 4 from the 100kGP). In all cases were segregation studies were possible, the variant had occurred as a de novo event.\r\n\r\nLMNB2 : 4 individuals from the DDD cohort and 1 from the 100kGP were found to harbor the same missense SNV (NM_032737.4:c.1192G>A, p.Glu398Lys). The variant had occurred de novo in 3 subjects and was inherited from a mosaic - unaffected - parent in a further case. Another individual was found to harbor c.160A>C - p.Asn54His.\r\n\r\nLMNB1/2 common phenotypes : \r\nAll cases had congenital microcephaly (OFC -5.85 +/- 1.14 SD) apart from one individual, without history of IUGR or postnatally abnormal height (the latter in most).\r\n\r\nNeuroimaging suggested structurally normal brain without abnormal migration. Gyral simplification / global reduction in white matter / increased extra axial spaces / enlarged ventricles were reported in 2.\r\n\r\nLMNB1 - Global developmental delay was a feature in all (mild to severe) with some having occasional words at 7y (P3), absent speech (P9 - age category 5-10y) or ID not further specified (P13).\r\n\r\nLMNB2 - DD was a feature in all 6 subjects (5/6 moderate to severe - 1/6 GDD). 5/6 were 10y or older with language (in 3 language not achieved) and motor deficits (walking not achieved in 1/6 - occurred at the age of 6y in 1/6).\r\n\r\nFacial features were not consistent nor suggestive of a syndromic diagnosis (sloping forehead in some).\r\n\r\nOverall, as the authors comment, the phenotype corresponded to a severe nonsyndromic microcephaly (although additional features were reported in some).\r\n\r\nAnimal model: \r\nMicrocephaly is supported by Lmnb1 ko mouse model. Lmnb1/2 ko mice however display migration defects, while Lmnb2 ko mice do not have reduced size at birth. Heterozygous Lmnb1 mice do not present microcephaly. It is suggested that while animal models support a similar (to the human) phenotype the underlying mechanism is different.\r\n\r\nVariant effect : \r\nvariants were shown to affect highly conserved residues within the lamin a-helical rod-domain. As affected residues are conserved in LMNA, modelling with available LMNA PDB structures, suggested disrupted interactions required for higher-order assembly of lamin filaments.\r\n\r\nRecurrence of specific variants at specific residues, absence of pLoF ones, the htz mouse Lmnb1 phenotype (absence of microcephaly) and the proposed mechanism (perturbation of complex formation) suggest a gain-of-function/dominant-negative effect rather than happloinsufficiency.\r\n\r\n[Please also note the additional OMIM phenotypes for LMNB1 / LMNB2 - not here reviewed] \nSources: Literature",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-17T23:01:58.329038+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "changed review comment from: Please consider inclusion of LMNB2 in the ID panel with amber/green rating.\r\n\r\nParry et al (2020 - PMID: 33033404) in a study to identify novel microcephaly genes using the DDD and 100k genomes project (100kGP) patient cohort, report on the phenotype of 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6).\r\n\r\nLMNB1 : The authors identified 3 recurrent variants (c.97A>G - p.Lys33Glu (3), c.97_99del - p.Lys33del (2) , c.269G>C - p.Arg90Pro (2) / NM_005573.4) in seven individuals (3 from the DDD study, 4 from the 100kGP). In all cases were segregation studies were possible, the variant had occurred as a de novo event.\r\n\r\nLMNB2 : 4 individuals from the DDD cohort and 1 from the 100kGP were found to harbor the same missense SNV (NM_032737.4:c.1192G>A, p.Glu398Lys). The variant had occurred de novo in 3 subjects and was inherited from a mosaic - unaffected - parent in a further case. Another individual was found to harbor c.160A>C - p.Asn54His.\r\n\r\nLMNB1/2 common phenotypes :\r\nAll cases had congenital microcephaly (OFC -5.85 +/- 1.14 SD) appart from one individual, without history of IUGR or postnatally abnormal height (the latter in most).\r\n\r\nNeuroimaging suggested structurally normal brain without abnormal migration. Gyral simplification / global reduction in white matter / increased extra axial spaces / enlarged ventricles were reported in 2.\r\n\r\nLMNB1 - Global developmental delay was a feature in all (mild to severe) with some having occasional words at 7y (P3), absent speech (P9 - age category 5-10y) or ID not further specified (P13).\r\n\r\nLMNB2 - DD was a feature in all 6 subjects (5/6 moderate to severe - 1/6 GDD). 5/6 were 10y or older with language (in 3 language not achieved) and motor deficits (walking not achieved in 1/6 - occured at the age of 6y in 1/6).\r\n\r\nFacial features were not consistent nor suggestive of a syndromic diagnosis (sloping forehead in some).\r\n\r\nOverall, as the authors comment, the phenotype corresponded to a severe nonsyndromic microcephaly (although additional features were reported in some).\r\n\r\nAnimal model:\r\nMicrocephaly is supported by Lmnb1 ko mouse model. Lmnb1/2 ko mice however display migration defects, while Lmnb2 ko mice do not have reduced size at birth. Heterozygous Lmnb1 mice do not present microcephaly. It is suggested that while animal models support a similar (to the human) phenotype the underlying mechanism is different.\r\n\r\nVariant effect :\r\nvariants were shown to affect highly conserved residues within the lamin a-helical rod-domain. As affected residues are conserved in LMNA, modelling with available LMNA PDB structures, suggested disrupted interactions required for higher-order assembly of lamin filaments.\r\n\r\nRecurrence of specific variants at specific residues, absence of pLoF ones, the htz mouse Lmnb1 phenotype (absence of microcephaly) and the proposed mechanism (perturbation of complex formation) suggest a gain-of-function/dominant-negative effect rather than happloinsufficiency.\r\n\r\n[Please also note the additional OMIM phenotypes for LMNB1 / LMNB2 - not here reviewed] \nSources: Literature; to: Please consider inclusion of LMNB2 in the ID panel with amber/green rating.\r\n\r\nParry et al (2020 - PMID: 33033404) in a study to identify novel microcephaly genes using the DDD and 100k genomes project (100kGP) patient cohort, report on the phenotype of 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6).\r\n\r\nLMNB1 : The authors identified 3 recurrent variants (c.97A>G - p.Lys33Glu (3), c.97_99del - p.Lys33del (2) , c.269G>C - p.Arg90Pro (2) / NM_005573.4) in seven individuals (3 from the DDD study, 4 from the 100kGP). In all cases were segregation studies were possible, the variant had occurred as a de novo event.\r\n\r\nLMNB2 : 4 individuals from the DDD cohort and 1 from the 100kGP were found to harbor the same missense SNV (NM_032737.4:c.1192G>A, p.Glu398Lys). The variant had occurred de novo in 3 subjects and was inherited from a mosaic - unaffected - parent in a further case. Another individual was found to harbor c.160A>C - p.Asn54His.\r\n\r\nLMNB1/2 common phenotypes :\r\nAll cases had congenital microcephaly (OFC -5.85 +/- 1.14 SD) apart from one individual, without history of IUGR or postnatally abnormal height (the latter in most).\r\n\r\nNeuroimaging suggested structurally normal brain without abnormal migration. Gyral simplification / global reduction in white matter / increased extra axial spaces / enlarged ventricles were reported in 2.\r\n\r\nLMNB1 - Global developmental delay was a feature in all (mild to severe) with some having occasional words at 7y (P3), absent speech (P9 - age category 5-10y) or ID not further specified (P13).\r\n\r\nLMNB2 - DD was a feature in all 6 subjects (5/6 moderate to severe - 1/6 GDD). 5/6 were 10y or older with language (in 3 language not achieved) and motor deficits (walking not achieved in 1/6 - occurred at the age of 6y in 1/6).\r\n\r\nFacial features were not consistent nor suggestive of a syndromic diagnosis (sloping forehead in some).\r\n\r\nOverall, as the authors comment, the phenotype corresponded to a severe nonsyndromic microcephaly (although additional features were reported in some).\r\n\r\nAnimal model:\r\nMicrocephaly is supported by Lmnb1 ko mouse model. Lmnb1/2 ko mice however display migration defects, while Lmnb2 ko mice do not have reduced size at birth. Heterozygous Lmnb1 mice do not present microcephaly. It is suggested that while animal models support a similar (to the human) phenotype the underlying mechanism is different.\r\n\r\nVariant effect :\r\nvariants were shown to affect highly conserved residues within the lamin a-helical rod-domain. As affected residues are conserved in LMNA, modelling with available LMNA PDB structures, suggested disrupted interactions required for higher-order assembly of lamin filaments.\r\n\r\nRecurrence of specific variants at specific residues, absence of pLoF ones, the htz mouse Lmnb1 phenotype (absence of microcephaly) and the proposed mechanism (perturbation of complex formation) suggest a gain-of-function/dominant-negative effect rather than happloinsufficiency.\r\n\r\n[Please also note the additional OMIM phenotypes for LMNB1 / LMNB2 - not here reviewed] \r\nSources: Literature",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-17T22:59:18.453315+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: LMNB2 was added\ngene: LMNB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LMNB2 were set to 33033404\nPhenotypes for gene: LMNB2 were set to Congenital microcephaly; Global developmental delay; Intellectual disability\nPenetrance for gene: LMNB2 were set to Complete\nMode of pathogenicity for gene: LMNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: LMNB2 was set to GREEN\nAdded comment: Please consider inclusion of LMNB2 in the ID panel with amber/green rating.\r\n\r\nParry et al (2020 - PMID: 33033404) in a study to identify novel microcephaly genes using the DDD and 100k genomes project (100kGP) patient cohort, report on the phenotype of 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6).\r\n\r\nLMNB1 : The authors identified 3 recurrent variants (c.97A>G - p.Lys33Glu (3), c.97_99del - p.Lys33del (2) , c.269G>C - p.Arg90Pro (2) / NM_005573.4) in seven individuals (3 from the DDD study, 4 from the 100kGP). In all cases were segregation studies were possible, the variant had occurred as a de novo event.\r\n\r\nLMNB2 : 4 individuals from the DDD cohort and 1 from the 100kGP were found to harbor the same missense SNV (NM_032737.4:c.1192G>A, p.Glu398Lys). The variant had occurred de novo in 3 subjects and was inherited from a mosaic - unaffected - parent in a further case. Another individual was found to harbor c.160A>C - p.Asn54His.\r\n\r\nLMNB1/2 common phenotypes :\r\nAll cases had congenital microcephaly (OFC -5.85 +/- 1.14 SD) appart from one individual, without history of IUGR or postnatally abnormal height (the latter in most).\r\n\r\nNeuroimaging suggested structurally normal brain without abnormal migration. Gyral simplification / global reduction in white matter / increased extra axial spaces / enlarged ventricles were reported in 2.\r\n\r\nLMNB1 - Global developmental delay was a feature in all (mild to severe) with some having occasional words at 7y (P3), absent speech (P9 - age category 5-10y) or ID not further specified (P13).\r\n\r\nLMNB2 - DD was a feature in all 6 subjects (5/6 moderate to severe - 1/6 GDD). 5/6 were 10y or older with language (in 3 language not achieved) and motor deficits (walking not achieved in 1/6 - occured at the age of 6y in 1/6).\r\n\r\nFacial features were not consistent nor suggestive of a syndromic diagnosis (sloping forehead in some).\r\n\r\nOverall, as the authors comment, the phenotype corresponded to a severe nonsyndromic microcephaly (although additional features were reported in some).\r\n\r\nAnimal model:\r\nMicrocephaly is supported by Lmnb1 ko mouse model. Lmnb1/2 ko mice however display migration defects, while Lmnb2 ko mice do not have reduced size at birth. Heterozygous Lmnb1 mice do not present microcephaly. It is suggested that while animal models support a similar (to the human) phenotype the underlying mechanism is different.\r\n\r\nVariant effect :\r\nvariants were shown to affect highly conserved residues within the lamin a-helical rod-domain. As affected residues are conserved in LMNA, modelling with available LMNA PDB structures, suggested disrupted interactions required for higher-order assembly of lamin filaments.\r\n\r\nRecurrence of specific variants at specific residues, absence of pLoF ones, the htz mouse Lmnb1 phenotype (absence of microcephaly) and the proposed mechanism (perturbation of complex formation) suggest a gain-of-function/dominant-negative effect rather than happloinsufficiency.\r\n\r\n[Please also note the additional OMIM phenotypes for LMNB1 / LMNB2 - not here reviewed] \nSources: Literature",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2020-10-17T22:56:48.468126+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3078",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "commented on gene: LMNB1: There is an additional report on LMBN1/2-associated phenotypes supporting green rating of the gene in the current panel.\r\n\r\nParry et al (2020 - PMID: 33033404) in a study to identify novel microcephaly genes using the DDD and 100k genomes project (100kGP) patient cohort, report on the phenotype of 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6).\r\n\r\nLMNB1 : The authors identified 3 recurrent variants (c.97A>G - p.Lys33Glu (3), c.97_99del - p.Lys33del (2) , c.269G>C - p.Arg90Pro (2) / NM_005573.4) in seven individuals (3 from the DDD study, 4 from the 100kGP). In all cases were segregation studies were possible, the variant had occurred as a de novo event.\r\n\r\nLMNB2 : 4 individuals from the DDD cohort and 1 from the 100kGP were found to harbor the same missense SNV (NM_032737.4:c.1192G>A, p.Glu398Lys). The variant had occurred de novo in 3 subjects and was inherited from a mosaic - unaffected - parent in a further case. Another individual was found to harbor c.160A>C - p.Asn54His.\r\n\r\nLMNB1/2 common phenotypes :\r\nAll cases had congenital microcephaly (OFC -5.85 +/- 1.14 SD) appart from one individual, without history of IUGR or postnatally abnormal height (the latter in most).\r\n\r\nNeuroimaging suggested structurally normal brain without abnormal migration. Gyral simplification / global reduction in white matter / increased extra axial spaces / enlarged ventricles were reported in 2.\r\n\r\nLMNB1 - Global developmental delay was a feature in all (mild to severe) with some having occasional words at 7y (P3), absent speech (P9 - age category 5-10y) or ID not further specified (P13).\r\n\r\nLMNB2 - DD was a feature in all 6 subjects (5/6 moderate to severe - 1/6 GDD). 5/6 were 10y or older with language (in 3 language not achieved) and motor deficits (walking not achieved in 1/6 - occured at the age of 6y in 1/6).\r\n\r\nFacial features were not consistent nor suggestive of a syndromic diagnosis (sloping forehead in some).\r\n\r\nOverall, as the authors comment, the phenotype corresponded to a severe nonsyndromic microcephaly (although additional features were reported in some).\r\n\r\nAnimal model:\r\nMicrocephaly is supported by Lmnb1 ko mouse model. Lmnb1/2 ko mice however display migration defects, while Lmnb2 ko mice do not have reduced size at birth. Heterozygous Lmnb1 mice do not present microcephaly. It is suggested that while animal models support a similar (to the human) phenotype the underlying mechanism is different.\r\n\r\nVariant effect :\r\nvariants were shown to affect highly conserved residues within the lamin a-helical rod-domain. As affected residues are conserved in LMNA, modelling with available LMNA PDB structures, suggested disrupted interactions required for higher-order assembly of lamin filaments.\r\n\r\nRecurrence of specific variants at specific residues, absence of pLoF ones, the htz mouse Lmnb1 phenotype (absence of microcephaly) and the proposed mechanism (perturbation of complex formation) suggest a gain-of-function/dominant-negative effect rather than happloinsufficiency.\r\n\r\n[Please also note the additional OMIM phenotypes for LMNB1 / LMNB2 - not here reviewed]\r\n\r\n--------",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-17T22:55:50.626961+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.489",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33033404; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:04:09.446656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC40 as ready",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:04:09.436588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc40 has been classified as Green List (High Evidence).",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:04:01.890623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, MIM#613808",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:03:42.490239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC40 were set to ",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:03:18.256632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:03:00.489815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 23255504, 31879361, 31765523, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:02:08.157052+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC40 as ready",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:02:08.146415+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc40 has been classified as Green List (High Evidence).",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:02:05.531945+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, MIM#613808",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:01:34.824012+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC40 were set to ",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:01:03.689795+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T21:00:33.762048+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 23255504, 31879361, 31765523, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T20:59:36.831020+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC40 as ready",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T20:59:36.823089+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc40 has been classified as Green List (High Evidence).",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T20:59:32.561603+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, MIM#613808",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T20:59:04.445933+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC40 were set to ",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T20:58:32.444745+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T20:58:02.596590+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 23255504, 31879361, 31765523, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:04:12.560537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC39 as ready",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:04:12.553198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc39 has been classified as Green List (High Evidence).",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:04:02.984564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, MIM# 613807",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:03:42.330430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC39 were set to ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:03:18.775315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:02:58.463736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972, 23255504; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:02:06.385552+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC39 as ready",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:02:06.368871+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc39 has been classified as Green List (High Evidence).",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:02:02.624183+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, MIM# 613807",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:01:35.580256+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC39 were set to ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:01:05.047801+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T12:00:35.591937+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972, 23255504; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:59:34.440355+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC39 as ready",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:59:34.431797+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc39 has been classified as Green List (High Evidence).",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:59:31.988772+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, MIM# 613807",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:59:01.649835+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC39 were set to ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:58:34.215649+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:58:05.897899+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972, 23255504; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:29:40.327415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC151 as ready",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:29:40.317340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc151 has been classified as Green List (High Evidence).",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:29:27.714238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, MIM# 616037",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:29:05.663133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC151 were set to ",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:28:14.742569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:27:53.140966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192045, 25224326, 32490514, 32286033, 30504913; Phenotypes: Ciliary dyskinesia, primary, 30, MIM# 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:27:06.111112+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC151 as ready",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:27:06.099445+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc151 has been classified as Green List (High Evidence).",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:27:01.835477+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, MIM# 616037",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:26:33.941556+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC151 were set to ",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:26:12.666610+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:25:58.864197+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC151 as ready",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:25:58.853657+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc151 has been classified as Green List (High Evidence).",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:25:43.168300+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192045, 25224326, 32490514, 32286033, 30504913; Phenotypes: Ciliary dyskinesia, primary, 30, MIM# 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:25:39.519163+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC151 were changed from to Ciliary dyskinesia, primary, 30, MIM# 616037",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:24:44.936191+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC151 were set to ",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:22:57.573358+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T11:22:27.459919+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192045, 25224326, 32490514, 32286033, 30504913; Phenotypes: Ciliary dyskinesia, primary, 30, MIM# 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC151",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:56:14.365534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC114 as ready",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:56:14.357199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc114 has been classified as Green List (High Evidence).",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:56:07.503820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, MIM# 615067",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:55:50.223540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC114 were set to ",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:55:32.725263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC114 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:55:16.028538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261303, 23261302, 32855706, 23506398; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:54:27.671579+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC114 as ready",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:54:27.661869+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc114 has been classified as Green List (High Evidence).",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:54:24.321910+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, MIM# 615067",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:52:51.795981+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC114 were set to ",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:52:28.785091+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC114 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:52:02.270870+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC114 as ready",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:52:02.256092+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc114 has been classified as Green List (High Evidence).",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:51:59.837481+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC114 were changed from Ciliary dyskinesia, primary, 20, MIM# 615067 to Ciliary dyskinesia, primary, 20, MIM# 615067",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:51:34.219525+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC114 were changed from to Ciliary dyskinesia, primary, 20, MIM# 615067",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:51:25.292998+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC114 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:50:37.125704+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC114 were set to ",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:50:36.296465+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261303, 23261302, 32855706, 23506398; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:49:53.136960+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC114 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:49:24.771521+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261303, 23261302, 32855706, 23506398; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:43:11.360578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC103 as ready",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:43:11.350363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc103 has been classified as Green List (High Evidence).",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:42:59.311786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, MIM# 614679",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:42:41.748901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC103 were set to ",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:41:38.816679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC103 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:41:21.833615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CCDC103.",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:41:09.805245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581229, 32447765, 31858719, 28790179; Phenotypes: Ciliary dyskinesia, primary, 17, MIM# 614679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:40:26.651968+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC103 as ready",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:40:26.643524+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc103 has been classified as Green List (High Evidence).",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:40:24.060188+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, MIM# 614679",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:39:57.086079+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC103 were set to ",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2020-10-17T10:39:30.458709+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC103 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC103",
"entity_type": "gene"
}
]
}